The Importance of SMA Carrier Testing
I am Dr. Christine Stanley, Laboratory Director and American Board of Medical Genetics board certified clinical molecular geneticist. I would like to take this opportunity to discuss the importance of carrier testing for one of the most under-recognized but most common genetic causes of infant death, Spinal Muscular Atrophy (SMA).
1 in 6,000-10,000 babies in the US are born with SMA. Since SMA is an autosomal recessive genetic disorder, a child with the disease has likely inherited it from his/her parents. Therefore, the parents are carriers for SMA but are unaffected themselves.
If you are pregnant or considering becoming pregnant, ask your primary care physician or OB how you can be tested to see if you are one of the almost 8 million Americans who are carriers for this devastating disease. The best time to find out if you are a carrier is before you become pregnant! Your physician can order the test for you or refer you to a genetic counselor. There are many reproductive options available to individuals who are carriers for SMA.
The most sensitive carrier testing available today is at Athena Diagnostics, the leader in genetic testing for neurological, endocrine, nephrotic and neuromuscular disease. In addition, Athena Diagnostics supports organizations that fund research for a cure for SMA. Please browse this website and join us on Twitter and Facebook so that together we can help spread awareness for this deadly disease.
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